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Page 1
Severe congenital neutropenia.
Welte K, Zeidler C, Dale DC. Welte K, et al. Semin Hematol. 2006 Jul;43(3):189-95. doi: 10.1053/j.seminhematol.2006.04.004. Semin Hematol. 2006. PMID: 16822461 Review.
Severe congenital neutropenia (CN) includes a variety of hematologic disorders characterized by severe neutropenia, with absolute neutrophil counts (ANC) below 0.5 x 10(9)/L, and associated with severe systemic bacterial infections from early infancy. ...
Severe congenital neutropenia (CN) includes a variety of hematologic disorders characterized by severe neutropenia, wit …
Severe congenital neutropenias.
Skokowa J, Dale DC, Touw IP, Zeidler C, Welte K. Skokowa J, et al. Nat Rev Dis Primers. 2017 Jun 8;3:17032. doi: 10.1038/nrdp.2017.32. Nat Rev Dis Primers. 2017. PMID: 28593997 Free PMC article. Review.
Severe congenital neutropenias are a heterogeneous group of rare haematological diseases characterized by impaired maturation of neutrophil granulocytes. Patients with severe congenital neutropenia are prone to recurrent, often life-threatening infections beg …
Severe congenital neutropenias are a heterogeneous group of rare haematological diseases characterized by impaired maturation of neutrophil …
A new severe congenital neutropenia syndrome associated with autosomal recessive COPZ1 mutations.
Borbaran Bravo N, Deordieva E, Doll L, ElGamacy M, Dannenmann B, Azevedo J, Iannuzzo A, Delafontaine S, Lehners M, Kolodziej M, Hernandez Alvarez B, Hellmuth AS, Ritter M, Findik B, Zakharova V, Bräuning S, Kandabarau S, Lengerke C, Feil R, Meyts I, Delon J, Templin M, Sturm M, Rieß O, Zeidler C, Welte K, Shcherbina A, Klimiankou M, Skokowa J. Borbaran Bravo N, et al. Blood. 2025 May 15;145(20):2317-2335. doi: 10.1182/blood.2023022576. Blood. 2025. PMID: 39642330 Free PMC article.
We have identified a new inherited bone marrow failure syndrome with severe congenital neutropenia (CN) caused by autosomal recessive mutations in the coatomer protein complex I (COPI) subunit zeta 1 (COPZ1) gene. ...
We have identified a new inherited bone marrow failure syndrome with severe congenital neutropenia (CN) caused by autos …
Severe congenital neutropenia: inheritance and pathophysiology.
Skokowa J, Germeshausen M, Zeidler C, Welte K. Skokowa J, et al. Curr Opin Hematol. 2007 Jan;14(1):22-8. doi: 10.1097/00062752-200701000-00006. Curr Opin Hematol. 2007. PMID: 17133096 Review.
PURPOSE OF REVIEW: Severe congenital neutropenia is a heterogeneous disorder of hematopoiesis characterized by a maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10/l. ...
PURPOSE OF REVIEW: Severe congenital neutropenia is a heterogeneous disorder of hematopoiesis characterized by a matura …
Severe congenital neutropenia: new genes explain an old disease.
Bohn G, Welte K, Klein C. Bohn G, et al. Curr Opin Rheumatol. 2007 Nov;19(6):644-50. doi: 10.1097/BOR.0b013e3282f05cc2. Curr Opin Rheumatol. 2007. PMID: 17917547 Review.
PURPOSE OF REVIEW: This review summarizes the recent advances in the diagnosis and molecular characterization of isolated and syndromal forms of severe congenital neutropenia. RECENT FINDINGS: It has become evident that severe congenital neut …
PURPOSE OF REVIEW: This review summarizes the recent advances in the diagnosis and molecular characterization of isolated and syndromal form …
Severe congenital neutropenia and the unfolded protein response.
Xia J, Link DC. Xia J, et al. Curr Opin Hematol. 2008 Jan;15(1):1-7. doi: 10.1097/MOH.0b013e3282f13cd2. Curr Opin Hematol. 2008. PMID: 18043239 Review.
PURPOSE OF REVIEW: Severe congenital neutropenia is an inborn disorder of granulopoiesis. Mutations of ELA2, encoding neutrophil elastase, are present in approximately 50% of cases of severe congenital neutropenia and nearly all cases of …
PURPOSE OF REVIEW: Severe congenital neutropenia is an inborn disorder of granulopoiesis. Mutations of ELA2, encoding n …
Congenital neutropenia.
Ancliff PJ. Ancliff PJ. Blood Rev. 2003 Dec;17(4):209-16. doi: 10.1016/s0268-960x(03)00019-5. Blood Rev. 2003. PMID: 14556775 Review.
This review will discuss the presentation of such children and the various causes of congenital neutropenia. In particular, it will focus on severe congenital neutropenia (SCN) and the recent discovery of mutations in the gene encoding neutrophil elastase in …
This review will discuss the presentation of such children and the various causes of congenital neutropenia. In particular, it will focus on …
Severe congenital neutropenia caused by ELANE gene mutation: A case report and literature review.
Wang J, Zhang H, Wang Y, Liang L, Yang Z. Wang J, et al. Medicine (Baltimore). 2022 Nov 4;101(44):e31357. doi: 10.1097/MD.0000000000031357. Medicine (Baltimore). 2022. PMID: 36343040 Free PMC article. Review.
RATIONALE: The Severe congenital neutropenia (SCN) is a rare genetic disease characterized by a deficiency of mature neutrophils in the bone marrow and peripheral blood disorders. ...
RATIONALE: The Severe congenital neutropenia (SCN) is a rare genetic disease characterized by a deficiency of mature ne …
RUNX1 Mutations in the Leukemic Progression of Severe Congenital Neutropenia.
Olofsen PA, Touw IP. Olofsen PA, et al. Mol Cells. 2020 Feb 29;43(2):139-144. doi: 10.14348/molcells.2020.0010. Mol Cells. 2020. PMID: 32041395 Free PMC article. Review.
This mini-review focusses on the role of RUNX1 mutations as the most common secondary leukemogenic hit in MDS/AML evolving from severe congenital neutropenia (SCN)....
This mini-review focusses on the role of RUNX1 mutations as the most common secondary leukemogenic hit in MDS/AML evolving from severe …
750 results